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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10686957 |
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NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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G |
Traf7 |
TNF receptor associated factor 7 |
|
ISO |
DNA:missense mutations:multiple |
RGD |
PMID:29148537 |
RGD:151356962 |
NCBI chrNW_004936694:1,868,309...1,886,772
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G |
Mmp1 |
matrix metallopeptidase 1 |
susceptibility |
ISO |
DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:17502998 |
RGD:7207034 |
NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857
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G |
Chd6 |
chromodomain helicase DNA binding protein 6 |
|
ISO |
ClinVar Annotator: match by term: Adult spinal cord ependymoma |
ClinVar |
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NCBI chrNW_004936561:238,307...394,082
Ensembl chrNW_004936561:178,700...394,842
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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11816139 |
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NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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G |
Ccn2 |
cellular communication network factor 2 |
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ISO |
mRNA:increased expression:tumor (human) |
RGD |
PMID:19366727 |
RGD:2314525 |
NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Aggressive fibromatosis |
ClinVar |
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26619011 PMID:26822237 More...
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NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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G |
Serpine1 |
serpin family E member 1 |
susceptibility |
ISO |
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) |
RGD |
PMID:17160433 |
RGD:13208596 |
NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19944662 |
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NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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G |
Bcl2 |
BCL2 apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10861090 |
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NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
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G |
Foxo1 |
forkhead box O1 |
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ISO |
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OMIM |
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NCBI chrNW_004936565:5,210,014...5,299,213
Ensembl chrNW_004936565:5,210,014...5,302,436
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G |
Pax3 |
paired box 3 |
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ISO |
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma |
OMIM ClinVar |
PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32747562 More...
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NCBI chrNW_004936569:4,215,513...4,307,815
Ensembl chrNW_004936569:4,216,900...4,307,815
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G |
Pax7 |
paired box 7 |
|
ISO |
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 |
OMIM ClinVar |
PMID:25741868 PMID:31092906 PMID:32214227 |
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NCBI chrNW_004936474:5,045,284...5,131,859
Ensembl chrNW_004936474:5,045,284...5,131,859
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G |
Tp73 |
tumor protein p73 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21245298 |
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NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464
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G |
Wwtr1 |
WW domain containing transcription regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31494105 |
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NCBI chrNW_004936758:101,629...225,496
Ensembl chrNW_004936758:101,620...225,525
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G |
Aspscr1 |
ASPSCR1 tether for SLC2A4, UBX domain containing |
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ISO |
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OMIM |
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NCBI chrNW_004936594:5,478,947...5,516,320
Ensembl chrNW_004936594:5,478,926...5,516,646
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
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NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
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G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
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NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281
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G |
Atrx |
ATRX chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Astrocytoma, anaplastic |
ClinVar |
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
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NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Astrocytoma, anaplastic |
ClinVar |
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15958617 PMID:16206219 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:24857548 PMID:25157968 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33407742 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 More...
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NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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G |
Palb2 |
partner and localizer of BRCA2 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:21285249 PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27616075 PMID:28492532 PMID:28678401 PMID:31636395 PMID:33471991 More...
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NCBI chrNW_004936501:8,246,927...8,273,258
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G |
Rnf213 |
ring finger protein 213 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:26822237 |
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NCBI chrNW_004936594:4,241,006...4,331,841
Ensembl chrNW_004936594:4,241,396...4,331,868
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G |
Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Anaplastic oligodendroglioma |
ClinVar |
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NCBI chrNW_004936706:216,394...243,361
Ensembl chrNW_004936706:212,833...242,756
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G |
Creb1 |
cAMP responsive element binding protein 1 |
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ISO |
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OMIM |
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NCBI chrNW_004936631:3,721,307...3,785,346
Ensembl chrNW_004936631:3,721,313...3,780,892
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
no_association |
ISO |
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human) associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human) |
RGD |
PMID:17932460 PMID:19265534 |
RGD:8657154 RGD:8657155 |
NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
protein:increased expression:kidney (human) |
RGD |
PMID:22737271 |
RGD:12802360 |
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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G |
Stat1 |
signal transducer and activator of transcription 1 |
|
ISO |
protein:increased serine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chrNW_004936506:7,196,860...7,235,854
Ensembl chrNW_004936506:7,196,797...7,233,756
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
protein:increased tyrosine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402
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G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney |
RGD |
PMID:19265534 |
RGD:8657154 |
NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
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G |
Angpt2 |
angiopoietin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556
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G |
Ccnd1 |
cyclin D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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Ensembl chrNW_004936599:973,838...983,316
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004936778:847,473...943,038
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G |
Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9774950 |
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NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
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G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:13678655 |
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NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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G |
Flt1 |
fms related receptor tyrosine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041
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G |
Gja4 |
gap junction protein alpha 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004936474:17,439,250...17,440,829
Ensembl chrNW_004936474:17,439,327...17,440,331
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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10930038 |
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NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958
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G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004936522:3,034,364...3,037,632
Ensembl chrNW_004936522:3,035,346...3,036,350
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G |
Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
ameliorates |
ISO |
human cells in mouse model protein:increased expression:vasculature (human) |
RGD |
PMID:27531900 |
RGD:329955561 |
NCBI chrNW_004936706:940,585...952,484
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G |
Kdr |
kinase insert domain receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Angiosarcoma |
ClinVar |
PMID:8456858 PMID:20147967 PMID:21371307 PMID:24740626 PMID:25157968 PMID:25808193 PMID:28492532 PMID:34117033 More...
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NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Angiosarcoma |
ClinVar |
PMID:26822237 |
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NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism associated with neoplasms, radiation-induced; DNA:amplification: (human) |
CTD RGD |
PMID:17569031 PMID:26440310 |
RGD:151665099 |
NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965
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G |
Plcg1 |
phospholipase C gamma 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24633157 |
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NCBI chrNW_004936561:598,372...631,575
Ensembl chrNW_004936561:598,382...631,581
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G |
Ptprb |
protein tyrosine phosphatase receptor type B |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:mutation:multiple (human) |
CTD RGD |
PMID:24633157 PMID:26440310 |
RGD:151361292 RGD:151665099 |
NCBI chrNW_004936545:8,150,766...8,235,674
Ensembl chrNW_004936545:8,147,291...8,235,715
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
protein:increased phosphorylation:blood vessel |
RGD |
PMID:18700251 |
RGD:8694308 |
NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402
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G |
Tek |
TEK receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004936611:2,420,176...2,531,726
Ensembl chrNW_004936611:2,420,172...2,531,722
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:mutation:multiple (human) |
CTD RGD |
PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 PMID:26440310 |
RGD:151665099 |
NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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G |
Vegfc |
vascular endothelial growth factor C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004936516:7,217,543...7,332,531
Ensembl chrNW_004936516:7,217,543...7,332,559
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
severity |
ISO |
|
RGD |
PMID:26286747 PMID:26956052 |
RGD:11343921 RGD:13782052 |
NCBI chrNW_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537
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G |
Pole |
DNA polymerase epsilon, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Neuroepithelial neoplasm |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29987844 |
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NCBI chrNW_004936660:2,575,255...2,622,867
Ensembl chrNW_004936660:2,575,360...2,622,852
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G |
Atm |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Astroblastoma, MN1-altered |
ClinVar |
PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 PMID:26467025 PMID:26689913 PMID:26787654 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28779002 PMID:30306255 PMID:30441849 PMID:31159747 PMID:31920950 PMID:32606146 PMID:33471991 PMID:34284872 PMID:35886069 More...
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NCBI chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211
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G |
CUNH11orf65 |
chromosome unknown C11orf65 homolog |
|
ISO |
ClinVar Annotator: match by term: Astroblastoma, MN1-altered |
ClinVar |
PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 PMID:26467025 PMID:26689913 PMID:26787654 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28779002 PMID:30306255 PMID:30441849 PMID:31159747 PMID:31920950 PMID:32606146 PMID:33471991 PMID:34284872 PMID:35886069 More...
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NCBI chrNW_004936551:305,617...343,369
Ensembl chrNW_004936551:305,611...351,063
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G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Astroblastoma, MN1-altered |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
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G |
Atrx |
ATRX chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor |
ClinVar |
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
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NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620
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G |
Gpc3 |
glypican 3 |
|
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:23530909 |
RGD:243065128 |
NCBI chrNW_004936691:1,060,013...1,459,736
Ensembl chrNW_004936691:1,059,994...1,459,740
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G |
Smarcb1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Teratoid tumor, atypical |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936619:1,276,239...1,308,945
Ensembl chrNW_004936619:1,275,362...1,308,913
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor |
ClinVar |
PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25741868 PMID:25952993 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 More...
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NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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G |
Rhob |
ras homolog family member B |
|
ISO |
|
RGD |
PMID:1710770 |
RGD:704375 |
NCBI chrNW_004936493:10,987,801...10,990,207
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|
|
G |
LOC101963041 |
histone H3.3A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
|
NCBI chrNW_004936526:2,835,002...2,842,328
|
|
|
G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 More...
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NCBI chrNW_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093
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G |
Atrx |
ATRX chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 |
|
NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620
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G |
Chek2 |
checkpoint kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:3313277 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11461078 PMID:11479205 PMID:11571648 PMID:11719428 PMID:11746983 PMID:11901158 PMID:11967536 PMID:12049740 PMID:12094328 PMID:12454775 PMID:12533788 PMID:12610780 PMID:12690581 PMID:12805407 PMID:14612911 PMID:14618615 PMID:14648717 PMID:14648718 PMID:14648719 PMID:14687034 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15239132 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:15649950 PMID:15810020 PMID:15818573 PMID:16199547 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16574953 PMID:16816021 PMID:16835864 PMID:16880452 PMID:16883537 PMID:16914568 PMID:16941491 PMID:16982735 PMID:17085682 PMID:17517688 PMID:17698850 PMID:17721994 PMID:18058223 PMID:18085035 PMID:18172190 PMID:18281249 PMID:18381420 PMID:18484200 PMID:18571837 PMID:18706089 PMID:18725878 PMID:18725978 PMID:18759107 PMID:18930998 PMID:18996005 PMID:19030985 PMID:19338683 PMID:19768534 PMID:19782031 PMID:19805189 PMID:19876921 PMID:20417869 PMID:20713355 PMID:21059199 PMID:21244692 PMID:21356067 PMID:21514219 PMID:21562711 PMID:21618645 PMID:21744992 PMID:21778326 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058216 PMID:22058428 PMID:22114986 PMID:22419737 PMID:22799331 PMID:22811390 PMID:22901170 PMID:22994785 PMID:23109706 PMID:23296741 PMID:23318652 PMID:23334666 PMID:23469205 PMID:23555315 PMID:23652375 PMID:23713947 PMID:23806170 PMID:23946381 PMID:23960188 PMID:24033266 PMID:24113346 PMID:24390236 PMID:24506336 PMID:24556621 PMID:24599715 PMID:24628946 PMID:24713400 PMID:24728327 PMID:24763289 PMID:24880342 PMID:24884479 PMID:25085752 PMID:25117502 PMID:25186627 PMID:25231023 PMID:25318351 PMID:25431674 PMID:25452441 PMID:25503501 PMID:25525159 PMID:25583358 PMID:25629968 PMID:25741868 PMID:25798211 PMID:25884806 PMID:25980754 PMID:26083025 PMID:26084796 PMID:26094658 PMID:26270727 PMID:26446916 PMID:26467025 PMID:26506619 PMID:26534844 PMID:26580448 PMID:26644315 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26787654 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27023146 PMID:27028851 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27273131 PMID:27296296 PMID:27318168 PMID:27433846 PMID:27442652 PMID:27443514 PMID:27488870 PMID:27498913 PMID:27534895 PMID:27553368 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27632928 PMID:27696107 PMID:27708748 PMID:27711073 PMID:27716369 PMID:27751358 PMID:27779110 PMID:27782108 PMID:27783279 PMID:27798748 PMID:27806230 PMID:27878467 PMID:27978560 PMID:28008555 PMID:28051113 PMID:28082821 PMID:28125075 PMID:28135139 PMID:28135145 PMID:28195393 PMID:28211887 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28514723 PMID:28580595 PMID:28709830 PMID:28724667 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28828701 PMID:28873162 PMID:28874143 PMID:28944238 PMID:28961279 PMID:28981386 PMID:29020732 PMID:29095881 PMID:29212164 PMID:29335925 PMID:29338689 PMID:29351919 PMID:29356917 PMID:29368341 PMID:29439820 PMID:29470806 PMID:29484706 PMID:29489754 PMID:29506128 PMID:29520813 PMID:29522266 PMID:29596542 PMID:29659569 PMID:29667044 PMID:29752822 PMID:29758562 PMID:29785007 PMID:29785153 PMID:29875428 PMID:29902706 PMID:29909568 PMID:29915322 PMID:29922827 PMID:29945567 PMID:29958926 PMID:29961768 PMID:29978187 PMID:29987844 PMID:30067863 PMID:30128536 PMID:30152102 PMID:30256826 PMID:30264118 PMID:30287823 PMID:30303537 PMID:30322717 PMID:30322893 PMID:30344923 PMID:30374176 PMID:30426508 PMID:30441849 PMID:30580288 PMID:30613976 PMID:30666157 PMID:30672594 PMID:30676620 PMID:30826992 PMID:30851065 PMID:30927251 PMID:31050813 PMID:31090900 PMID:31159747 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31220302 PMID:31263054 PMID:31263571 PMID:31300551 PMID:31360903 PMID:31398194 PMID:31409080 PMID:31415627 PMID:31422574 PMID:31447099 PMID:31472684 PMID:31512090 PMID:31614935 PMID:31742824 PMID:31780696 PMID:31811167 PMID:31843900 PMID:31844177 PMID:31871297 PMID:31948886 PMID:31980526 PMID:31993860 PMID:32029870 PMID:32091409 PMID:32119081 PMID:32243226 PMID:32255556 PMID:32283892 PMID:32285038 PMID:32295079 PMID:32310333 PMID:32338768 PMID:32383162 PMID:32521533 PMID:32531112 PMID:32546565 PMID:32566746 PMID:32658311 PMID:32659967 PMID:32830346 PMID:32832836 PMID:32875559 PMID:32885271 PMID:32906215 PMID:32957588 PMID:32959997 PMID:33030641 PMID:33077847 PMID:33128190 PMID:33134171 PMID:33158149 PMID:33179747 PMID:33309985 PMID:33326660 PMID:33471974 PMID:33471991 PMID:33558524 PMID:33606978 PMID:33670479 PMID:33692755 PMID:33726816 PMID:33803639 PMID:33804961 PMID:33986034 PMID:34008015 PMID:34130653 PMID:34282249 PMID:34299313 PMID:34308366 PMID:34326862 PMID:34570182 PMID:34622392 PMID:34630562 PMID:34903604 PMID:34933735 PMID:34992046 PMID:35264596 PMID:35402282 PMID:35441217 PMID:35495172 PMID:35534704 PMID:35643632 PMID:35886069 PMID:36035419 PMID:36136322 PMID:36222830 PMID:36315097 PMID:36360192 PMID:36468172 PMID:36653541 PMID:36717774 PMID:36845387 PMID:36988593 PMID:37055167 PMID:37149759 PMID:37262986 PMID:37449874 PMID:37490054 More...
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NCBI chrNW_004936657:2,805,947...2,848,180
Ensembl chrNW_004936657:2,805,959...2,848,180
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G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
exacerbates disease_progression |
ISO |
mRNA, protein:increased expression:bone tissue (human ) protein:increased expression:bone tissue (human) |
RGD |
PMID:27157136 PMID:28339091 |
RGD:42722011 RGD:42722013 |
NCBI chrNW_004936599:3,663,288...3,670,048
Ensembl chrNW_004936599:3,663,326...3,670,047
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:19434073 PMID:19470925 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:9311732 PMID:9632788 PMID:9671401 PMID:9973307 PMID:10486322 PMID:10966849 PMID:12541220 PMID:12955724 PMID:14722923 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15884040 PMID:16269091 PMID:16449662 PMID:16463005 PMID:17096365 PMID:17960112 PMID:18677112 PMID:18682685 PMID:20041224 PMID:20447117 PMID:22205104 PMID:22328814 PMID:22963398 PMID:23532519 PMID:24225018 PMID:24688104 PMID:24791139 PMID:25741868 PMID:25754945 PMID:25758528 PMID:26396485 PMID:26580448 PMID:26787237 PMID:26925970 PMID:27582626 PMID:27983729 PMID:28492532 PMID:28575107 PMID:28724667 PMID:28873162 PMID:29261756 PMID:30031154 PMID:32218800 PMID:33493472 PMID:34294096 More...
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NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8308926 PMID:8401536 PMID:8423216 PMID:8550239 PMID:8633021 PMID:8649776 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9607760 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9891044 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11782540 PMID:11793474 PMID:12007217 PMID:12085209 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15037740 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16818505 PMID:16861262 PMID:16964264 PMID:17015838 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:18307025 PMID:18391940 PMID:18511570 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20586629 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21113594 PMID:21118481 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21672450 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23792586 PMID:23887774 PMID:24033266 PMID:24065105 PMID:24122735 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24810334 PMID:24835218 PMID:25059482 PMID:25157968 PMID:25256166 PMID:25404506 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27146902 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28664506 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29070607 PMID:29300620 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30816478 PMID:31105275 PMID:31321604 PMID:31775759 PMID:31882575 PMID:31983162 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33372952 PMID:33471991 PMID:33840814 PMID:34088725 PMID:34503094 PMID:34529667 PMID:34709361 PMID:35043155 PMID:35802772 PMID:35974385 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 More...
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NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:25741868 PMID:26822237 |
|
NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
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G |
Grm1 |
glutamate metabotropic receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24658000 |
|
NCBI chrNW_004936625:91,229...468,242
Ensembl chrNW_004936625:90,299...466,395
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G |
Eef2 |
eukaryotic translation elongation factor 2 |
|
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:24589652 |
RGD:153297816 |
NCBI chrNW_004936588:2,259,236...2,267,692
Ensembl chrNW_004936588:2,258,309...2,266,609
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G |
Ncam1 |
neural cell adhesion molecule 1 |
disease_progression |
ISO |
|
RGD |
PMID:20219118 |
RGD:40924672 |
NCBI chrNW_004936612:1,262,557...1,556,281
Ensembl chrNW_004936612:1,262,544...1,556,016
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
|
ISO |
human, rat, and/or mouse glioma cells in a mouse model |
RGD |
PMID:30790292 |
RGD:150573813 |
NCBI chrNW_004936600:3,270,662...3,381,722
Ensembl chrNW_004936600:3,268,260...3,381,781
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
ISO |
|
RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502 RGD:13792598 |
NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820
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G |
Bcl2 |
BCL2 apoptosis regulator |
treatment |
ISO |
|
RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502 RGD:13792598 |
NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
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G |
Birc3 |
baculoviral IAP repeat containing 3 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chrNW_004936551:5,544,047...5,556,550
Ensembl chrNW_004936551:5,544,065...5,556,555
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|
G |
Birc5 |
baculoviral IAP repeat containing 5 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chrNW_004936594:2,812,165...2,820,618
Ensembl chrNW_004936594:2,812,238...2,820,636
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G |
Casp3 |
caspase 3 |
treatment |
ISO |
|
RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chrNW_004936554:4,571,072...4,593,765
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G |
Ccdc194 |
coiled-coil domain containing 194 |
|
ISO |
mRNA,protein:increased expression:brain: |
RGD |
PMID:21565182 |
RGD:14398497 |
NCBI chrNW_004936596:3,492,733...3,501,347
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|
G |
Fadd |
Fas associated via death domain |
treatment |
ISO |
|
RGD |
PMID:27255231 |
RGD:13792502 |
NCBI chrNW_004936599:633,501...639,412
Ensembl chrNW_004936599:633,330...639,456
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G |
Fas |
Fas cell surface death receptor |
treatment |
ISO |
|
RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chrNW_004936735:209,369...234,582
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G |
Faslg |
Fas ligand |
treatment |
ISO |
|
RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chrNW_004936481:14,789,547...14,795,780
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G |
Foxa1 |
forkhead box A1 |
disease_progression |
ISO |
|
RGD |
PMID:23510544 |
RGD:151665742 |
NCBI chrNW_004936494:11,529,546...11,535,224
Ensembl chrNW_004936494:11,529,546...11,535,224
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|
G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
|
ISO |
|
RGD |
PMID:26032618 |
RGD:13792685 |
NCBI chrNW_004936709:1,243,149...1,247,782
Ensembl chrNW_004936709:1,243,147...1,247,903
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002
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G |
Naip |
NLR family apoptosis inhibitory protein |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chrNW_004936549:5,000,526...5,069,110
|
|
G |
Ptprb |
protein tyrosine phosphatase receptor type B |
|
ISO |
human cell in mouse model protein:increased expression:brain (human) |
RGD |
PMID:16923162 PMID:33900414 |
RGD:151660356 RGD:151660368 |
NCBI chrNW_004936545:8,150,766...8,235,674
Ensembl chrNW_004936545:8,147,291...8,235,715
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Vegfa |
vascular endothelial growth factor A |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:SNP:exon 10: p.R399Q (human) |
RGD |
PMID:18330515 |
RGD:401827274 |
NCBI chrNW_004936706:752,571...783,746
Ensembl chrNW_004936706:751,108...783,777
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Xrcc3 |
X-ray repair cross complementing 3 |
susceptibility |
ISO |
DNA:SNP:exon 8: p.T241M (rs861539) (Human) |
RGD |
PMID:18330515 |
RGD:401827274 |
NCBI chrNW_004936621:1,462,441...1,474,937
Ensembl chrNW_004936621:1,462,428...1,473,868
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Pax3 |
paired box 3 |
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ISO |
mRNA,protein:increased expression:brain stem: |
RGD |
PMID:25330836 |
RGD:13702891 |
NCBI chrNW_004936569:4,215,513...4,307,815
Ensembl chrNW_004936569:4,216,900...4,307,815
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Pdgfra |
platelet derived growth factor receptor alpha |
severity |
ISO |
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RGD |
PMID:20197468 |
RGD:13702892 |
NCBI chrNW_004936482:16,804,129...16,853,539
Ensembl chrNW_004936482:16,807,569...16,853,587
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Kdr |
kinase insert domain receptor |
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ISO |
DNA:mutation:multiple (human) |
RGD |
PMID:32123305 |
RGD:151665102 |
NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002
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Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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ISO |
DNA:mutation:multiple (human) |
RGD |
PMID:32123305 |
RGD:151665102 |
NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073
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Ptprb |
protein tyrosine phosphatase receptor type B |
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ISO |
DNA:mutation:multiple (human) |
RGD |
PMID:32123305 |
RGD:151665102 |
NCBI chrNW_004936545:8,150,766...8,235,674
Ensembl chrNW_004936545:8,147,291...8,235,715
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Wnt7b |
Wnt family member 7B |
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ISO |
mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas |
RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chrNW_004936629:3,869,976...3,907,932
Ensembl chrNW_004936629:3,869,523...3,909,808
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Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Capillary hemangioma |
ClinVar |
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 PMID:28969385 PMID:29286531 PMID:29758562 PMID:33176815 More...
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NCBI chrNW_004936526:6,944,056...7,201,226
Ensembl chrNW_004936526:6,944,005...7,200,583
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Ccn1 |
cellular communication network factor 1 |
disease_progression |
ISO |
mRNA:increased expression:skin (human) |
RGD |
PMID:33587560 |
RGD:329845523 |
NCBI chrNW_004936608:152,174...155,123
Ensembl chrNW_004936608:151,838...155,358
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Npc1 |
NPC intracellular cholesterol transporter 1 |
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ISO |
ClinVar Annotator: match by term: Capillary hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936550:2,983,172...3,032,222
Ensembl chrNW_004936550:2,980,442...3,032,229
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Tgfb1 |
transforming growth factor beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15132766 |
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NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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Vim |
vimentin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15132766 |
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NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182
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Fam20a |
FAM20A golgi associated secretory pathway pseudokinase |
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ISO |
ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 |
ClinVar |
PMID:11115848 PMID:19293268 PMID:24170103 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936541:7,867,856...7,916,145
Ensembl chrNW_004936541:7,867,303...7,916,154
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Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: CARNEY MYXOMA-ENDOCRINE COMPLEX | ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 | ClinVar Annotator: match by term: Carney myxoma-endocrine complex | ClinVar Annotator: match by term: Myxoma, spotty pigmentation, and endocrine overactivity |
OMIM ClinVar |
PMID:9536098 PMID:10973256 PMID:10974026 PMID:11115848 PMID:12213893 PMID:12424709 PMID:12950501 PMID:15371594 PMID:15992699 PMID:16199547 PMID:16569736 PMID:17396442 PMID:17576681 PMID:18056771 PMID:18223213 PMID:18241045 PMID:18445140 PMID:19265501 PMID:19293268 PMID:19539840 PMID:20358582 PMID:20924687 PMID:21047926 PMID:21651393 PMID:21850686 PMID:21900385 PMID:22112814 PMID:22259056 PMID:22341669 PMID:22464250 PMID:22464252 PMID:22723333 PMID:22785148 PMID:23043190 PMID:23425300 PMID:23942052 PMID:24033266 PMID:24144965 PMID:24170103 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26354069 PMID:26405036 PMID:26822237 PMID:27589370 PMID:27825928 PMID:27930734 PMID:28051113 PMID:28255981 PMID:28492532 PMID:28518168 PMID:28640241 PMID:28804209 PMID:29264456 PMID:30426508 PMID:32191290 PMID:32287321 PMID:32461654 PMID:34313605 PMID:35586626 More...
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NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709
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Myh8 |
myosin heavy chain 8 |
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ISO |
ClinVar Annotator: match by term: Carney complex variant |
OMIM ClinVar |
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 PMID:15590965 PMID:17041932 PMID:18049072 PMID:20949528 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936595:3,278,829...3,307,134
Ensembl chrNW_004936595:3,278,886...3,308,716
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Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
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NCBI chrNW_004936815:1,148,963...1,167,585
Ensembl chrNW_004936815:1,148,963...1,167,568
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Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
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ISO |
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:24623741 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:28873162 PMID:29386252 PMID:30050099 PMID:30201732 PMID:31308404 More...
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NCBI chrNW_004936474:3,993,224...4,021,359
Ensembl chrNW_004936474:3,990,778...4,021,423
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Sdhc |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 More...
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NCBI chrNW_004936903:592,641...636,845
Ensembl chrNW_004936903:601,355...636,092
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Alg9 |
ALG9 alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,554,158...2,661,896
Ensembl chrNW_004936612:2,554,226...2,650,037
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G |
Btg4 |
BTG anti-proliferation factor 4 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,922,611...2,959,253
Ensembl chrNW_004936612:2,922,611...2,926,346
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Cfap68 |
cilia and flagella associated protein 68 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,550,021...2,554,108
Ensembl chrNW_004936612:2,548,907...2,553,818
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Cryab |
crystallin alpha B |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,532,851...2,536,473
Ensembl chrNW_004936612:2,532,812...2,537,495
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G |
CUNH11orf52 |
chromosome unknown C11orf52 homolog |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,518,908...2,526,691
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Dixdc1 |
DIX domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,440,357...2,518,596
Ensembl chrNW_004936612:2,443,525...2,517,114
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Dlat |
dihydrolipoamide S-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,395,452...2,437,592
Ensembl chrNW_004936612:2,393,071...2,437,522
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G |
Hoatz |
HOATZ cilia and flagella associated protein |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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Ensembl chrNW_004936612:2,877,665...2,906,981
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G |
Hspb2 |
heat shock protein family B (small) member 2 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,530,827...2,532,148
Ensembl chrNW_004936612:2,519,697...2,532,195
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Layn |
layilin |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,853,354...2,872,861
Ensembl chrNW_004936612:2,853,633...2,872,948
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G |
Mpz |
myelin protein zero |
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ISO |
ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor |
ClinVar |
PMID:12807974 PMID:17468193 PMID:23342407 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936903:583,942...589,160
Ensembl chrNW_004936903:583,942...589,160
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G |
Nkapd1 |
NKAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,371,168...2,382,049
Ensembl chrNW_004936612:2,370,354...2,381,939
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G |
Pih1d2 |
PIH1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,382,172...2,389,877
Ensembl chrNW_004936612:2,383,138...2,392,501
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G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:3,032,015...3,055,015
Ensembl chrNW_004936612:3,032,015...3,054,966
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G |
Pou2af3 |
POU class 2 homeobox associating factor 3 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:3,098,426...3,106,983
Ensembl chrNW_004936612:3,098,392...3,107,299
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G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit Abeta |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,662,137...2,695,340
Ensembl chrNW_004936612:2,662,131...2,695,340
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G |
Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor |
OMIM ClinVar |
PMID:9509062 PMID:11404820 PMID:11897817 PMID:12362046 PMID:12364472 PMID:12618761 PMID:14500403 PMID:14715873 PMID:14985401 PMID:15328326 PMID:15383933 PMID:16199547 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:17102082 PMID:17102083 PMID:17200167 PMID:17298551 PMID:17376234 PMID:17487275 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17943698 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18840642 PMID:19215943 PMID:19258401 PMID:19351833 PMID:19368708 PMID:19399650 PMID:19411806 PMID:19454582 PMID:19576851 PMID:19694205 PMID:19802898 PMID:19825962 PMID:20208144 PMID:20418362 PMID:20459544 PMID:20540712 PMID:20592014 PMID:20614293 PMID:20923864 PMID:21348866 PMID:21565294 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22270996 PMID:22517554 PMID:22677546 PMID:22703879 PMID:22835832 PMID:22904323 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:23660872 PMID:23666964 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24102379 PMID:24466223 PMID:24509376 PMID:24606901 PMID:24659481 PMID:24728327 PMID:24939699 PMID:25047027 PMID:25326637 PMID:25333069 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25741868 PMID:25972245 PMID:26092435 PMID:26259135 PMID:26269449 PMID:26283294 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26719882 PMID:27011036 PMID:27171833 PMID:27539324 PMID:27573198 PMID:27604842 PMID:28070496 PMID:28324028 PMID:28374168 PMID:28492532 PMID:28503760 PMID:28738844 PMID:28819017 PMID:28873162 PMID:29386252 PMID:29909963 PMID:29951630 PMID:30050099 PMID:30087776 PMID:30152102 PMID:30201732 PMID:30877234 PMID:31365623 PMID:31492822 PMID:31666924 PMID:32460727 PMID:32741965 PMID:32963463 PMID:33300499 PMID:33362715 PMID:34118692 PMID:34439168 PMID:34439371 PMID:34466344 PMID:34654328 PMID:34906457 PMID:35441217 More...
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NCBI chrNW_004936474:3,993,224...4,021,359
Ensembl chrNW_004936474:3,990,778...4,021,423
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G |
Sdhc |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor |
OMIM ClinVar |
PMID:9536098 PMID:12658451 PMID:12807974 PMID:17468193 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17898811 PMID:19454582 PMID:21173220 PMID:23083876 PMID:23282968 PMID:23342407 PMID:24033266 PMID:24402737 PMID:24423348 PMID:24523625 PMID:24758179 PMID:25024072 PMID:25741868 PMID:26173966 PMID:26273102 PMID:26467025 PMID:27700540 PMID:28492532 PMID:28819017 PMID:30548481 PMID:34750850 More...
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NCBI chrNW_004936903:592,641...636,845
Ensembl chrNW_004936903:601,355...636,092
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G |
Sdhd |
succinate dehydrogenase complex subunit D |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor |
OMIM ClinVar |
PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897812 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12218630 PMID:12386824 PMID:12509798 PMID:12696072 PMID:12782822 PMID:12807974 PMID:12811540 PMID:14557476 PMID:14974914 PMID:14985401 PMID:15032977 PMID:15066320 PMID:15235042 PMID:15328326 PMID:15331017 PMID:15479192 PMID:15531530 PMID:15623805 PMID:15905695 PMID:15989954 PMID:16061558 PMID:16080474 PMID:16199547 PMID:16314641 PMID:16317055 PMID:17041923 PMID:17102082 PMID:17102085 PMID:17208193 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17973943 PMID:18211978 PMID:18213727 PMID:18414213 PMID:18551016 PMID:18561749 PMID:18678321 PMID:18692411 PMID:18826997 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19393419 PMID:19454582 PMID:19550080 PMID:19584903 PMID:19802898 PMID:19825962 PMID:19936639 PMID:20098451 PMID:20111059 PMID:20208144 PMID:20301715 PMID:20418362 PMID:20842377 PMID:21318381 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22025150 PMID:22041456 PMID:22138625 PMID:22170724 PMID:22241717 PMID:22290790 PMID:22382802 PMID:22456618 PMID:22517554 PMID:22517557 PMID:22566194 PMID:22575350 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24735130 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25328978 PMID:25376524 PMID:25494863 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:25758995 PMID:25791839 PMID:25819804 PMID:25985138 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26273102 PMID:26467025 PMID:27153395 PMID:27279923 PMID:27539324 PMID:27634942 PMID:27785149 PMID:27986441 PMID:28128698 PMID:28164237 PMID:28179334 PMID:28492532 PMID:28748451 PMID:28873162 PMID:28975465 PMID:28977582 PMID:29386252 PMID:29510530 PMID:29545045 PMID:29625052 PMID:29681642 PMID:29777207 PMID:29792313 PMID:29875428 PMID:29925701 PMID:30050099 PMID:30093976 PMID:30172768 PMID:30273935 PMID:30375904 PMID:30484866 PMID:30548481 PMID:30877234 PMID:30951038 PMID:31104306 PMID:31194233 PMID:31212687 PMID:31492822 PMID:31508186 PMID:31666924 PMID:32035780 PMID:32098148 PMID:32472550 PMID:32659967 PMID:32741965 PMID:32948182 PMID:32948195 PMID:33219105 PMID:33362715 PMID:33397040 PMID:33745191 PMID:33748650 PMID:34012134 PMID:34439168 PMID:34877445 PMID:34906457 PMID:35060925 PMID:35460558 PMID:35626065 PMID:35938916 PMID:36614070 More...
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NCBI chrNW_004936612:2,357,336...2,369,204
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Sik2 |
salt inducible kinase 2 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,691,729...2,810,975
Ensembl chrNW_004936612:2,691,524...2,810,981
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Timm8b |
translocase of inner mitochondrial membrane 8 homolog B |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004936612:2,369,273...2,370,968
Ensembl chrNW_004936612:2,369,292...2,371,220
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Dhfr |
dihydrofolate reductase |
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ISO |
ClinVar Annotator: match by term: Cavernous sinus meningioma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 |
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NCBI chrNW_004936469:67,962...83,116
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Kmt2d |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Cavernous sinus meningioma |
ClinVar |
PMID:21671394 PMID:22126750 PMID:28492532 |
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NCBI chrNW_004936512:6,819,240...6,860,852
Ensembl chrNW_004936512:6,822,057...6,854,451
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Msh3 |
mutS homolog 3 |
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ISO |
ClinVar Annotator: match by term: Cavernous sinus meningioma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 |
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NCBI chrNW_004936469:82,967...275,772
Ensembl chrNW_004936469:83,285...273,561
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Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Cerebellar hemangioblastoma |
ClinVar |
PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936602:3,135,790...3,140,622
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Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar medulloblastoma |
ClinVar |
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NCBI chrNW_004936508:4,708,661...4,728,671
Ensembl chrNW_004936508:4,708,661...4,728,787
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Rtel1 |
regulator of telomere elongation helicase 1 |
ameliorates susceptibility |
ISO |
DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human) DNA:SNP:cds:rs4809324 (human) |
RGD |
PMID:26014354 |
RGD:152985535 |
NCBI chrNW_004936514:10,920,979...10,954,483
Ensembl chrNW_004936514:10,922,322...10,954,402
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Mapk1 |
mitogen-activated protein kinase 1 |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:21466243 |
RGD:13702864 |
NCBI chrNW_004936619:1,889,841...1,932,646
Ensembl chrNW_004936619:1,889,708...1,932,646
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LOC101963257 |
histone H3.3A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
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NCBI chrNW_004936594:959,493...961,703
Ensembl chrNW_004936594:958,049...961,708
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Myl3 |
myosin light chain 3 |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
ClinVar |
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NCBI chrNW_004936596:649,887...655,110
Ensembl chrNW_004936596:649,875...655,110
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Pth1r |
parathyroid hormone 1 receptor |
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ISO |
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
OMIM ClinVar |
PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 PMID:10523019 PMID:17164305 PMID:17576681 PMID:18559376 PMID:21404329 PMID:23771181 PMID:25741868 PMID:28492532 PMID:31986066 More...
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NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213
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Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 PMID:25895133 |
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NCBI chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363
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Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 PMID:25895133 |
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NCBI chrNW_004936483:15,845,777...15,864,341
Ensembl chrNW_004936483:15,845,792...15,864,341
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Ihh |
Indian hedgehog signaling molecule |
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ISO |
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RGD |
PMID:26091072 |
RGD:12910968 |
NCBI chrNW_004936569:1,474,693...1,480,562
Ensembl chrNW_004936569:1,474,665...1,480,568
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Ptpn11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) |
RGD |
PMID:20577567 |
RGD:11069623 |
NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448
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Smo |
smoothened, frizzled class receptor |
treatment |
ISO |
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RGD |
PMID:26091072 |
RGD:12910968 |
NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281
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Chi3l1 |
chitinase 3 like 1 |
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ISO |
mRNA:increased expression:tumor (human) |
RGD |
PMID:12598313 |
RGD:4892624 |
NCBI chrNW_004936567:1,411,080...1,418,332
Ensembl chrNW_004936567:1,411,037...1,418,801
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:23770606 |
RGD:8657387 |
NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853
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Ext1 |
exostosin glycosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic |
OMIM ClinVar |
PMID:7550340 PMID:8981950 PMID:9521425 PMID:10679937 PMID:11170095 PMID:11391482 PMID:15586175 PMID:16088908 PMID:17301954 PMID:18165274 PMID:19810120 PMID:23439489 PMID:24728327 PMID:25468659 PMID:25541963 PMID:25727835 PMID:25741868 PMID:28492532 PMID:29126381 More...
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NCBI chrNW_004936470:28,303,213...28,566,470
Ensembl chrNW_004936470:28,303,828...28,566,118
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
protein:increased expression:growth plate |
RGD |
PMID:17907424 |
RGD:11568634 |
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
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Mtor |
mechanistic target of rapamycin kinase |
disease_progression |
ISO |
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RGD |
PMID:22761648 |
RGD:10040952 |
NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342
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Taf15 |
TATA-box binding protein associated factor 15 |
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ISO |
extraskeletal myxoid chondrosarcomas (EMC) |
RGD |
PMID:10602519 |
RGD:1599281 |
NCBI chrNW_004936490:199,226...230,190
Ensembl chrNW_004936490:199,201...230,244
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Prkca |
protein kinase C alpha |
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ISO |
DNA:mutation:cds:c.1387G>C,p.D463H(human) |
RGD |
PMID:29476136 |
RGD:13782058 |
NCBI chrNW_004936541:6,231,604...6,488,201
Ensembl chrNW_004936541:6,233,110...6,488,052
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Brca2 |
BRCA2 DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Chordoma |
ClinVar |
PMID:186727 PMID:10923033 PMID:11304778 PMID:11873550 PMID:11920621 PMID:12100744 PMID:12161607 PMID:12228710 PMID:12442265 PMID:12442273 PMID:12774040 PMID:15172753 PMID:15645491 PMID:15800311 PMID:15944772 PMID:16205630 PMID:16683254 PMID:17018160 PMID:17924331 PMID:17997147 PMID:18256760 PMID:18451181 PMID:19043619 PMID:19200354 PMID:19563646 PMID:19656415 PMID:20104584 PMID:21120943 PMID:21520333 PMID:21638052 PMID:21702907 PMID:21719596 PMID:21952622 PMID:21990134 PMID:22194698 PMID:22366370 PMID:22476429 PMID:22703879 PMID:22798144 PMID:22811390 PMID:23108138 PMID:24212087 PMID:24249303 PMID:24259538 PMID:24323938 PMID:24448499 PMID:24489791 PMID:24504028 PMID:24556621 PMID:24728189 PMID:24728327 PMID:25447315 PMID:25682074 PMID:25741868 PMID:25782689 PMID:25863477 PMID:25948282 PMID:26109977 PMID:26145171 PMID:26287763 PMID:26467025 PMID:26681312 PMID:27062684 PMID:27153395 PMID:27376475 PMID:27616075 PMID:28492532 PMID:29348823 PMID:29394989 PMID:29446198 PMID:29785135 PMID:29884841 PMID:29988080 PMID:30032850 PMID:30287823 PMID:30309222 PMID:30447919 PMID:30702160 PMID:31060523 PMID:31131967 PMID:31214711 PMID:31409081 PMID:31742824 PMID:31843900 PMID:31911673 PMID:32885271 PMID:33293522 PMID:33372952 PMID:33471991 PMID:33609447 PMID:34178674 PMID:34350294 PMID:34970085 PMID:35736817 PMID:35762214 PMID:36721989 PMID:36988593 PMID:37922907 More...
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NCBI chrNW_004936472:26,945,659...27,017,693
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Mn1 |
MN1 proto-oncogene, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Chordoma |
ClinVar |
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NCBI chrNW_004936657:2,024,302...2,066,196
Ensembl chrNW_004936657:2,024,350...2,065,263
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Palb2 |
partner and localizer of BRCA2 |
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ISO |
ClinVar Annotator: match by term: Chordoma |
ClinVar |
PMID:25085752 PMID:25741868 PMID:26283626 PMID:26315354 PMID:27106063 PMID:27443514 PMID:28492532 PMID:28779002 PMID:29522266 PMID:30303537 PMID:30680046 PMID:31636395 PMID:32546565 PMID:33471991 PMID:34284872 PMID:35762214 More...
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NCBI chrNW_004936501:8,246,927...8,273,258
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Tbxt |
T-box transcription factor T |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19801981 PMID:23064415 |
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NCBI chrNW_004936489:16,027,359...16,035,041
Ensembl chrNW_004936489:16,027,359...16,035,041
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Fgf8 |
fibroblast growth factor 8 |
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ISO |
protein:increased expression:testicular germ cell neoplasms |
RGD |
PMID:11764380 |
RGD:2289339 |
NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689
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Igf2 |
insulin like growth factor 2 |
disease_progression |
ISO |
protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR |
RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167
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Insr |
insulin receptor |
disease_progression |
ISO |
protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR |
RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chrNW_004936588:4,345,306...4,453,380
Ensembl chrNW_004936588:4,345,306...4,453,668
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
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Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
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Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
DNA, protein:hypermethylation, decreased expression:promoter, placenta |
RGD |
PMID:15507671 |
RGD:2290418 |
NCBI chrNW_004936492:6,996,627...7,046,137
Ensembl chrNW_004936492:6,996,613...7,046,190
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Acod1 |
aconitate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:4,322,198...4,326,562
Ensembl chrNW_004936511:4,322,198...4,329,686
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Alg11 |
ALG11 alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:4,763,894...4,775,360
Ensembl chrNW_004936565:4,763,779...4,778,250
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Arl11 |
ARF like GTPase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:2,686,783...2,687,377
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Atp7b |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:4,694,294...4,763,661
Ensembl chrNW_004936565:4,694,281...4,763,773
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Bora |
BORA aurora kinase A activator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:8,107,476...8,134,677
Ensembl chrNW_004936511:8,107,756...8,134,683
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Cab39l |
calcium binding protein 39 like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:2,415,225...2,536,311
Ensembl chrNW_004936565:2,417,309...2,472,189
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Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:2,336,613...2,395,816
Ensembl chrNW_004936565:2,336,744...2,387,195
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Ckap2 |
cytoskeleton associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:4,872,142...4,896,449
Ensembl chrNW_004936565:4,871,414...4,881,597
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Cln5 |
CLN5 intracellular trafficking protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:4,283,016...4,291,968
Ensembl chrNW_004936511:4,283,009...4,292,376
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Cnmd |
chondromodulin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936667:599,703...624,821
Ensembl chrNW_004936667:599,711...624,999
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Commd6 |
COMM domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:5,591,851...5,596,998
Ensembl chrNW_004936511:5,591,848...5,600,270
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CUNH13orf42 |
chromosome unknown C13orf42 homolog |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:3,936,666...3,964,309
Ensembl chrNW_004936565:3,936,666...3,964,309
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Cysltr2 |
cysteinyl leukotriene receptor 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:1,917,970...1,919,027
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G |
Dach1 |
dachshund family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:8,899,245...9,253,024
Ensembl chrNW_004936511:9,061,676...9,253,486
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Diaph3 |
diaphanous related formin 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936705:1,381,025...1,833,890
Ensembl chrNW_004936705:1,380,445...1,731,280
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Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:8,082,909...8,105,203
Ensembl chrNW_004936511:8,082,406...8,108,233
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G |
Dleu7 |
deleted in lymphocytic leukemia 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:3,706,566...3,722,689
Ensembl chrNW_004936565:3,706,538...3,722,802
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G |
Ebpl |
EBP like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:2,706,788...2,731,453
Ensembl chrNW_004936565:2,706,788...2,731,453
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G |
Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434
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G |
Fam124a |
family with sequence similarity 124 member A |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:4,058,280...4,106,803
Ensembl chrNW_004936565:4,080,867...4,105,740
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G |
Fbxl3 |
F-box and leucine rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:4,259,066...4,280,501
Ensembl chrNW_004936511:4,258,548...4,283,285
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G |
Fndc3a |
fibronectin type III domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:2,154,672...2,312,670
Ensembl chrNW_004936565:2,154,599...2,312,862
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G |
Ints6 |
integrator complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:4,198,659...4,282,443
Ensembl chrNW_004936565:4,199,195...4,282,443
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G |
Itm2b |
integral membrane protein 2B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:1,535,570...1,557,667
Ensembl chrNW_004936565:1,535,779...1,557,013
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G |
Kcnrg |
potassium channel regulator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:2,991,568...2,997,592
Ensembl chrNW_004936565:2,991,410...2,997,557
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G |
Kctd12 |
potassium channel tetramerization domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:4,389,558...4,395,630
Ensembl chrNW_004936511:4,389,755...4,390,738
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G |
Klf12 |
KLF transcription factor 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:6,992,131...7,292,484
Ensembl chrNW_004936511:6,854,995...7,283,347
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G |
Klf5 |
KLF transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:7,806,714...7,824,833
Ensembl chrNW_004936511:7,806,708...7,824,992
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G |
Klhl1 |
kelch like family member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:10,511,200...10,879,121
Ensembl chrNW_004936511:10,511,192...10,879,146
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G |
Kpna3 |
karyopherin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:2,738,003...2,775,814
Ensembl chrNW_004936565:2,737,218...2,775,798
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G |
Lmo7 |
LIM domain 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:5,292,737...5,501,374
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G |
LOC101972150 |
protocadherin-8 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936667:716,802...721,441
Ensembl chrNW_004936667:716,625...721,503
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G |
LOC101978403 |
histone-lysine N-methyltransferase SETDB2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:2,536,623...2,607,824
Ensembl chrNW_004936565:2,591,305...2,606,130 Ensembl chrNW_004936565:2,591,305...2,606,130
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G |
Lpar6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:1,688,218...1,689,876
Ensembl chrNW_004936565:1,688,314...1,689,348
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G |
Med4 |
mediator complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:1,397,434...1,414,674
Ensembl chrNW_004936565:1,396,088...1,415,248
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G |
Mlnr |
motilin receptor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:2,321,799...2,326,871
Ensembl chrNW_004936565:2,323,966...2,328,535
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G |
Mycbp2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:3,977,950...4,248,959
Ensembl chrNW_004936511:3,978,246...4,249,234
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G |
Mzt1 |
mitotic spindle organizing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:8,134,607...8,149,923
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G |
Ndfip2 |
Nedd4 family interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:2,063,630...2,123,214
Ensembl chrNW_004936511:2,063,144...2,124,037
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G |
Nek3 |
NIMA related kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:4,840,416...4,863,349
Ensembl chrNW_004936565:4,840,894...4,863,301
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G |
Nek5 |
NIMA related kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:4,779,843...4,836,093
Ensembl chrNW_004936565:4,779,933...4,836,093
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G |
Nudt15 |
nudix hydrolase 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:1,380,981...1,389,908
Ensembl chrNW_004936565:1,381,655...1,389,048
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G |
Obi1 |
ORC ubiquitin ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:2,800,466...2,847,896
Ensembl chrNW_004936511:2,800,425...2,848,628
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G |
Olfm4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936667:905,556...923,105
Ensembl chrNW_004936667:907,473...922,291
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G |
Pcdh17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936820:764,016...860,325
Ensembl chrNW_004936820:765,100...861,667
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G |
Pcdh20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936705:326,349...332,242
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G |
Pcdh9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936553:424,425...971,388
Ensembl chrNW_004936553:424,988...1,272,450
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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:7,860,552...8,082,850
Ensembl chrNW_004936511:7,860,590...8,081,525
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G |
Pou4f1 |
POU class 4 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:2,857,017...2,859,705
Ensembl chrNW_004936511:2,857,331...2,859,277
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846
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G |
Rbm26 |
RNA binding motif protein 26 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:2,175,192...2,252,955
Ensembl chrNW_004936511:2,175,374...2,249,195
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G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:2,608,788...2,649,992
Ensembl chrNW_004936565:2,608,792...2,650,604
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G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:1,750,565...1,789,779
Ensembl chrNW_004936565:1,750,105...1,789,737
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G |
Rnaseh2b |
ribonuclease H2 subunit B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016
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G |
Scel |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:3,696,150...3,794,031
Ensembl chrNW_004936511:3,694,543...3,794,086
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G |
Serpine3 |
serpin family E member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:4,167,734...4,198,573
Ensembl chrNW_004936565:4,168,895...4,197,662
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G |
Slain1 |
SLAIN motif family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:3,615,251...3,671,429
Ensembl chrNW_004936511:3,614,303...3,671,847
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G |
Slitrk1 |
SLIT and NTRK like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936696:1,447,644...1,452,612
Ensembl chrNW_004936696:1,449,687...1,451,777
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G |
Slitrk6 |
SLIT and NTRK like family member 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936866:412,719...419,381
Ensembl chrNW_004936866:412,818...419,381
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:1,452,421...1,458,031
Ensembl chrNW_004936511:1,452,807...1,458,031
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G |
Spryd7 |
SPRY domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:2,911,523...2,939,151
Ensembl chrNW_004936565:2,908,169...2,939,232
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G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:1,313,150...1,355,693
Ensembl chrNW_004936565:1,313,150...1,355,693
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G |
Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936667:556,555...588,585
Ensembl chrNW_004936667:556,533...588,160
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G |
Tbc1d4 |
TBC1 domain family member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:5,789,683...5,858,930
Ensembl chrNW_004936511:5,673,368...5,856,631
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G |
Tdrd3 |
tudor domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:11,258,898...11,348,522
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:4,925,400...4,952,210
Ensembl chrNW_004936565:4,925,237...4,954,054
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G |
Tmem272 |
transmembrane protein 272 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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G |
Trim13 |
tripartite motif containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:2,976,681...2,989,036
Ensembl chrNW_004936565:2,976,729...2,989,088
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G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936511:5,524,425...5,581,156
Ensembl chrNW_004936511:5,522,965...5,581,334
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G |
Vps36 |
vacuolar protein sorting 36 homolog |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:4,898,969...4,921,411
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G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004936565:4,375,012...4,527,259
Ensembl chrNW_004936565:4,375,462...4,520,691
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
ClinVar Annotator: match by term: CIC-DUX Sarcoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936677:2,774,076...2,779,660
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G |
Usf3 |
upstream transcription factor family member 3 |
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ISO |
ClinVar Annotator: match by term: CIC-rearranged sarcoma |
ClinVar |
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NCBI chrNW_004936536:1,174,321...1,200,015
Ensembl chrNW_004936536:1,180,189...1,200,067
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G |
Bcor |
BCL6 corepressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26098867 |
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NCBI chrNW_004936502:6,764,043...6,812,194
Ensembl chrNW_004936502:6,764,907...6,792,916
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G |
Gna11 |
G protein subunit alpha 11 |
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ISO |
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi |
ClinVar |
PMID:25741868 PMID:27476652 |
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NCBI chrNW_004936588:1,770,777...1,789,143
Ensembl chrNW_004936588:1,770,771...1,789,170
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi |
OMIM ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29296277 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:36474027 PMID:37667289 PMID:37712948 More...
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NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: CLOVES syndrome |
ClinVar |
PMID:25741868 PMID:34040190 |
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NCBI chrNW_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
|
ISO |
ClinVar Annotator: match by term: Congenital fibrosarcoma |
ClinVar |
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NCBI chrNW_004936600:3,270,662...3,381,722
Ensembl chrNW_004936600:3,268,260...3,381,781
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Infantile fibrosarcoma |
ClinVar |
PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:11051239 PMID:11782540 PMID:12826609 PMID:14743206 PMID:16489069 PMID:16818505 PMID:17417627 PMID:17427234 PMID:17606709 PMID:17881637 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21343334 PMID:21519010 PMID:21601526 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:36988593 More...
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NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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G |
Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum lipoma |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936542:2,450,830...2,478,740
Ensembl chrNW_004936542:2,452,359...2,476,126
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G |
Kit |
KIT proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Cutaneous mastocytosis |
ClinVar |
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9827716 PMID:9990072 PMID:11276010 PMID:11380399 PMID:11493470 PMID:11505412 PMID:12960119 PMID:15173254 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16908931 PMID:16912224 PMID:17259998 PMID:17372901 PMID:18024392 PMID:18980976 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19812602 PMID:19865100 PMID:20736294 PMID:21159146 PMID:21689725 PMID:22357254 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:24755198 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
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NCBI chrNW_004936482:17,162,854...17,238,319
Ensembl chrNW_004936482:17,162,950...17,238,274
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G |
Kitlg |
KIT ligand |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20559008 |
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NCBI chrNW_004936507:5,566,144...5,650,412
Ensembl chrNW_004936507:5,565,821...5,650,828
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion DNA:gene fusion:exon |
RGD |
PMID:12641779 PMID:22153773 |
RGD:2292195 RGD:5688300 |
NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
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G |
Foxo3 |
forkhead box O3 |
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ISO |
OMIM:166950 |
MouseDO |
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NCBI chrNW_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Desmoid tumor |
ClinVar |
PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 PMID:22135120 PMID:23757202 PMID:25741868 PMID:27081525 PMID:28492532 More...
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NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Desmoid tumor |
ClinVar |
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26619011 PMID:26822237 More...
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NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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G |
Tnfrsf17 |
TNF receptor superfamily member 17 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic small round cell tumor |
ClinVar |
PMID:26822237 |
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NCBI chrNW_004936501:907,059...910,084
Ensembl chrNW_004936501:907,009...909,878
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G |
Actr1a |
actin related protein 1A |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:3,384,466...3,402,312
Ensembl chrNW_004936600:3,384,423...3,402,304
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G |
Arid2 |
AT-rich interaction domain 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:26580448 |
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NCBI chrNW_004936512:4,020,303...4,199,390
Ensembl chrNW_004936512:4,020,966...4,196,459
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G |
Arl3 |
ARF like GTPase 3 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:3,190,212...3,229,831
Ensembl chrNW_004936600:3,190,208...3,232,755
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G |
As3mt |
arsenite methyltransferase |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:3,050,946...3,069,786
Ensembl chrNW_004936600:3,051,129...3,069,690
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G |
Atp5mk |
ATP synthase membrane subunit k |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,676,423...2,683,055
Ensembl chrNW_004936600:2,676,387...2,684,780
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G |
Borcs7 |
BLOC-1 related complex subunit 7 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:3,074,857...3,088,294
Ensembl chrNW_004936600:3,074,987...3,088,524
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G |
Calhm1 |
calcium homeostasis modulator 1 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,620,110...2,623,003
Ensembl chrNW_004936600:2,620,110...2,623,003
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G |
Calhm2 |
calcium homeostasis modulator family member 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,625,601...2,631,211
Ensembl chrNW_004936600:2,625,552...2,632,479
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G |
Calhm3 |
calcium homeostasis modulator 3 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,603,852...2,607,624
Ensembl chrNW_004936600:2,600,804...2,607,732
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G |
Cfap43 |
cilia and flagella associated protein 43 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:1,954,987...2,042,834
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G |
Cfap58 |
cilia and flagella associated protein 58 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:1,769,243...1,861,341
Ensembl chrNW_004936600:1,769,851...1,862,876
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G |
Cnnm2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,898,321...3,037,414
Ensembl chrNW_004936600:2,904,410...3,036,132
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G |
Col17a1 |
collagen type XVII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173
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G |
Ctcf |
CCCTC-binding factor |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
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NCBI chrNW_004936475:17,987,137...18,031,733
Ensembl chrNW_004936475:17,987,156...18,031,760
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G |
CUNH10orf95 |
chromosome unknown C10orf95 homolog |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:3,428,561...3,429,778
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G |
Gsto1 |
glutathione S-transferase omega 1 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:1,932,152...1,943,342
Ensembl chrNW_004936600:1,930,695...1,943,422
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G |
Gsto2 |
glutathione S-transferase omega 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:1,907,396...1,925,256
Ensembl chrNW_004936600:1,907,517...1,925,235
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G |
Ina |
internexin neuronal intermediate filament protein alpha |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,747,649...2,760,517
Ensembl chrNW_004936600:2,746,772...2,760,573
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G |
Itprip |
inositol 1,4,5-trisphosphate receptor interacting protein |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:1,874,696...1,898,033
Ensembl chrNW_004936600:1,895,714...1,897,384
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G |
LOC101961565 |
VPS10 domain-containing receptor SorCS3 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:1,040,284...1,610,474
Ensembl chrNW_004936600:1,042,135...1,609,783
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G |
LOC101970767 |
steroid 17-alpha-hydroxylase/17,20 lyase |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:3,097,620...3,102,713
Ensembl chrNW_004936600:3,097,638...3,102,713
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G |
Mfsd13a |
major facilitator superfamily domain containing 13A |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:3,402,962...3,420,849
Ensembl chrNW_004936600:3,403,007...3,420,875
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G |
Neurl1 |
neuralized E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,518,193...2,590,336
Ensembl chrNW_004936600:2,518,265...2,590,344
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G |
Nt5c2 |
5'-nucleotidase, cytosolic II |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,828,277...2,892,795
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G |
Pcgf6 |
polycomb group ring finger 6 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,714,883...2,741,418
Ensembl chrNW_004936600:2,714,843...2,741,697
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G |
Pdcd11 |
programmed cell death 11 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,631,520...2,676,315
Ensembl chrNW_004936600:2,631,940...2,673,379
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G |
Sfr1 |
SWI5 dependent homologous recombination repair protein 1 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,034,023...2,049,131
Ensembl chrNW_004936600:2,041,170...2,049,357
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G |
Sfxn2 |
sideroflexin 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:3,173,472...3,190,041
Ensembl chrNW_004936600:3,173,336...3,188,649
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G |
Sh3pxd2a |
SH3 and PX domains 2A |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,343,709...2,513,497
Ensembl chrNW_004936600:2,343,658...2,509,612
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G |
Slk |
STE20 like kinase |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,134,374...2,193,302
Ensembl chrNW_004936600:2,137,798...2,193,192
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G |
Stn1 |
STN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,230,754...2,266,956
Ensembl chrNW_004936600:2,230,705...2,266,968
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:3,270,662...3,381,722
Ensembl chrNW_004936600:3,268,260...3,381,781
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G |
Taf5 |
TATA-box binding protein associated factor 5 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:2,683,045...2,700,272
Ensembl chrNW_004936600:2,679,807...2,700,274
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G |
Trim8 |
tripartite motif containing 8 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:3,244,888...3,259,042
Ensembl chrNW_004936600:3,244,405...3,259,218
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G |
Wbp1l |
WW domain binding protein 1 like |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004936600:3,111,377...3,125,244
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G |
Mtap |
methylthioadenosine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY |
OMIM ClinVar |
PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 PMID:16419137 PMID:22464254 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936652:3,431,588...3,468,770
Ensembl chrNW_004936652:3,431,171...3,472,071
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G |
Kit |
KIT proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: MASTOCYTOSIS, DIFFUSE CUTANEOUS |
ClinVar |
PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 PMID:11380399 PMID:11493470 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:21689725 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
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NCBI chrNW_004936482:17,162,854...17,238,319
Ensembl chrNW_004936482:17,162,950...17,238,274
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G |
Brip1 |
BRCA1 interacting DNA helicase 1 |
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ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 PMID:19150983 PMID:19379763 PMID:19442249 PMID:19519404 PMID:20639400 PMID:20980836 PMID:21345144 PMID:22024395 PMID:22287629 PMID:22582397 PMID:23161009 PMID:23276657 PMID:23644138 PMID:23935105 PMID:24448499 PMID:24487782 PMID:24573678 PMID:24728327 PMID:24895130 PMID:25374583 PMID:25583461 PMID:25741868 PMID:26315354 PMID:26596371 PMID:26689913 PMID:26790966 PMID:26921362 PMID:27107905 PMID:28492532 PMID:28911102 PMID:29922827 PMID:30322717 PMID:31265121 PMID:31341520 PMID:31822495 PMID:32427313 PMID:32542039 PMID:33028645 PMID:33471991 PMID:33619228 PMID:34585738 More...
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NCBI chrNW_004936490:3,001,445...3,139,538
Ensembl chrNW_004936490:3,003,484...3,137,479
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G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261
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G |
Alk |
ALK receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936493:3,624,288...3,671,567
Ensembl chrNW_004936493:3,028,608...3,671,874
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G |
Brca2 |
BRCA2 DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004936472:26,945,659...27,017,693
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G |
Cdk4 |
cyclin dependent kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936646:1,886,262...1,889,260
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G |
Fanca |
FA complementation group A |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936641:281,119...319,796
Ensembl chrNW_004936641:281,073...324,053
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363
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G |
Kdm5b |
lysine demethylase 5B |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936567:1,782,056...1,860,861
Ensembl chrNW_004936567:1,781,995...1,863,461
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G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:26740943 PMID:28492532 PMID:31882575 |
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NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261
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G |
Palb2 |
partner and localizer of BRCA2 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936501:8,246,927...8,273,258
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G |
Pms2 |
PMS1 homolog 2, mismatch repair system component |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:23435383 PMID:25741868 PMID:28492532 PMID:35451539 |
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NCBI chrNW_004936750:439,396...468,747
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G |
Ret |
ret proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:22648184 PMID:25741868 PMID:28492532 PMID:28946813 PMID:31159747 PMID:32091409 PMID:33981013 More...
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NCBI chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936815:1,148,963...1,167,585
Ensembl chrNW_004936815:1,148,963...1,167,568
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Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8718514 PMID:8829627 PMID:11370630 PMID:11782540 PMID:12826609 PMID:15958617 PMID:16206219 PMID:16818505 PMID:17015838 PMID:17606709 PMID:19012332 PMID:19468865 PMID:20407015 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32475984 PMID:33407742 More...
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NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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Tspan31 |
tetraspanin 31 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936646:1,883,272...1,886,287
Ensembl chrNW_004936646:1,883,341...1,889,284
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
DNA:mutation:cds:p.V600E(human) |
RGD |
PMID:25346165 |
RGD:11567238 |
NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
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Arid1a |
AT-rich interaction domain 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
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NCBI chrNW_004936474:11,148,857...11,197,312
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G |
Bcor |
BCL6 corepressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
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NCBI chrNW_004936502:6,764,043...6,812,194
Ensembl chrNW_004936502:6,764,907...6,792,916
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G |
Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15475955 |
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NCBI chrNW_004936471:3,631,760...3,696,024
Ensembl chrNW_004936471:3,633,536...3,695,684
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G |
Dmd |
dystrophin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24793134 |
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NCBI chrNW_004936553:7,157,526...7,943,703
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Myod1 |
myogenic differentiation 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24793135 |
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NCBI chrNW_004936528:1,407,187...1,409,683
Ensembl chrNW_004936528:1,407,661...1,409,573
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G |
Ptpn11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma |
ClinVar |
PMID:26619011 PMID:26822237 |
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NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448
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G |
Setd2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
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NCBI chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373
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Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768 |
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NCBI chrNW_004936588:579,816...601,033
Ensembl chrNW_004936588:579,816...603,654
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G |
Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31494105 |
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NCBI chrNW_004936551:5,638,383...5,740,523
Ensembl chrNW_004936551:5,634,751...5,740,567
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G |
Slc22a18 |
solute carrier family 22 member 18 |
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ISO |
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OMIM |
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NCBI chrNW_004936794:1,042,103...1,061,347
Ensembl chrNW_004936794:1,042,224...1,061,345
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G |
Dicer1 |
dicer 1, ribonuclease III |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2 |
OMIM ClinVar |
PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:23728841 PMID:24728327 PMID:24839956 PMID:24909177 PMID:25022261 PMID:25118636 PMID:25741868 PMID:26467025 PMID:26475046 PMID:26545620 PMID:26555935 PMID:26577641 PMID:26925222 PMID:27459524 PMID:28492532 PMID:28524158 PMID:28873162 PMID:29399970 PMID:29883781 PMID:30097050 PMID:30178239 PMID:30446821 PMID:31838154 PMID:32714280 PMID:34291157 PMID:34313605 More...
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NCBI chrNW_004936846:528,768...584,599
Ensembl chrNW_004936846:532,972...575,689
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G |
Afp |
alpha fetoprotein |
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ISO |
protein:increased expression:serum |
RGD |
PMID:17525908 |
RGD:2292040 |
NCBI chrNW_004936598:2,058,474...2,077,711
Ensembl chrNW_004936598:2,058,117...2,077,728
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors |
RGD |
PMID:16822086 |
RGD:2298800 |
NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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Fgf8 |
fibroblast growth factor 8 |
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ISO |
protein:increased expression:testicular germ cell neoplasms |
RGD |
PMID:11764380 |
RGD:2289339 |
NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689
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Sall4 |
spalt like transcription factor 4 |
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ISO |
protein:increased expression:testis, nucleus (human) |
RGD |
PMID:23347651 |
RGD:11557983 |
NCBI chrNW_004936514:3,285,778...3,302,179
Ensembl chrNW_004936514:3,285,531...3,303,644
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Tnfsf8 |
TNF superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9111512 |
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NCBI chrNW_004936487:4,057,637...4,081,207
Ensembl chrNW_004936487:4,057,643...4,081,207
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G |
Wnt2b |
Wnt family member 2B |
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ISO |
mRNA:increased expression:tumor |
RGD |
PMID:16822086 |
RGD:2298800 |
NCBI chrNW_004936690:1,077,538...1,094,005
Ensembl chrNW_004936690:1,079,227...1,097,041
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Kit |
KIT proto-oncogene, receptor tyrosine kinase |
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ISO |
protein:increased expression:tumor:increased in 6/8 (75%) of tumors |
RGD |
PMID:17367465 |
RGD:2292170 |
NCBI chrNW_004936482:17,162,854...17,238,319
Ensembl chrNW_004936482:17,162,950...17,238,274
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G |
Bcl7c |
BAF chromatin remodeling complex subunit BCL7C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chrNW_004936501:13,274,659...13,278,099
Ensembl chrNW_004936501:13,240,937...13,278,099
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G |
Ephb2 |
EPH receptor B2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chrNW_004936474:8,109,800...8,203,106
Ensembl chrNW_004936474:8,109,031...8,203,106
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Gdnf |
glial cell derived neurotrophic factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
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NCBI chrNW_004936518:4,291,391...4,310,752
Ensembl chrNW_004936518:4,288,154...4,310,753
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G |
Igf2 |
insulin like growth factor 2 |
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ISO |
mRNA:increased expression:cerebellum |
RGD |
PMID:18478565 |
RGD:5509961 |
NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167
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G |
Rab3a |
RAB3A, member RAS oncogene family |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chrNW_004936596:2,990,367...2,995,935
Ensembl chrNW_004936596:2,989,804...2,998,305
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G |
Rtbdn |
retbindin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chrNW_004936659:1,907,933...1,911,690
Ensembl chrNW_004936659:1,907,936...1,911,994
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G |
Shc3 |
SHC adaptor protein 3 |
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ISO |
DNA:amplification:brain: |
RGD |
PMID:19748727 |
RGD:13782069 |
NCBI chrNW_004936780:7,885...130,002
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Znf668 |
zinc finger protein 668 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chrNW_004936501:13,423,491...13,442,329
Ensembl chrNW_004936501:13,422,989...13,426,060
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G |
Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17069596 |
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NCBI chrNW_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368
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G |
Col4a6 |
collagen type IV alpha 6 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17069596 |
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NCBI chrNW_004936499:6,421,930...6,640,429
Ensembl chrNW_004936499:6,362,295...6,639,047
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G |
Smarcb1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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ISO |
protein:decreased expression:epithelial cell: |
RGD |
PMID:19033866 |
RGD:155804293 |
NCBI chrNW_004936619:1,276,239...1,308,945
Ensembl chrNW_004936619:1,275,362...1,308,913
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806
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G |
Cd99 |
CD99 molecule (Xg blood group) |
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ISO |
ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936644:3,557,082...3,566,057
Ensembl chrNW_004936644:3,557,048...3,566,046
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G |
Cdk4 |
cyclin dependent kinase 4 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma |
ClinVar |
PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:26580448 PMID:28166811 PMID:28492532 PMID:30093976 PMID:30851086 More...
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NCBI chrNW_004936646:1,886,262...1,889,260
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G |
Ciz1 |
CDKN1A interacting zinc finger protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17508423 |
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NCBI chrNW_004936487:15,728,982...15,748,737
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G |
Egr2 |
early growth response 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214589 |
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NCBI chrNW_004936753:1,958,250...1,962,640
Ensembl chrNW_004936753:1,958,264...1,962,640
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G |
Ewsr1 |
EWS RNA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936657:3,296,217...3,323,473
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G |
Fli1 |
Fli-1 proto-oncogene, ETS transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11772151 PMID:16646077 PMID:26214589 |
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NCBI chrNW_004936572:3,448,870...3,576,406
Ensembl chrNW_004936572:3,448,862...3,577,836
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G |
Kdm3a |
lysine demethylase 3A |
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ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:24362521 |
RGD:9590218 |
NCBI chrNW_004936712:1,053,210...1,097,845
Ensembl chrNW_004936712:1,053,210...1,096,961
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma | ClinVar Annotator: match by term: Ewing tumor |
ClinVar |
PMID:7607663 PMID:9385374 PMID:9463322 PMID:10494088 PMID:10607834 PMID:10712197 PMID:11137998 PMID:12112660 PMID:12807981 PMID:15060124 PMID:16479075 PMID:16870183 PMID:17311297 PMID:20301288 PMID:22925204 PMID:23668869 PMID:23913538 PMID:25741868 PMID:25810463 PMID:26467025 PMID:26962827 PMID:27322474 PMID:27838393 PMID:28492532 PMID:30290804 PMID:30530636 PMID:31347283 PMID:31730495 PMID:36988593 More...
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NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261
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Tspan31 |
tetraspanin 31 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma |
ClinVar |
PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:26580448 PMID:28166811 PMID:28492532 PMID:30093976 PMID:30851086 More...
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NCBI chrNW_004936646:1,883,272...1,886,287
Ensembl chrNW_004936646:1,883,341...1,889,284
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Agps |
alkylglycerone phosphate synthase |
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ISO |
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RGD |
PMID:7407223 |
RGD:1598794 |
NCBI chrNW_004936509:6,742,800...6,872,045
Ensembl chrNW_004936509:6,742,673...6,868,401
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Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9743294 |
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NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
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Ifng |
interferon gamma |
treatment |
ISO |
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RGD |
PMID:2119881 |
RGD:10755752 |
NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
A to T transversion; Gln to His substitution |
RGD |
PMID:11295286 |
RGD:1598680 |
NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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Nras |
NRAS proto-oncogene, GTPase |
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ISO |
DNA:transversion:exon p.Q61L (human) |
RGD |
PMID:11295286 |
RGD:1598680 |
NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590
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G |
Slc6a14 |
solute carrier family 6 member 14 |
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ISO |
mRNA, protein:increased expression:brush border epithelial cell |
RGD |
PMID:17006743 |
RGD:1625275 |
NCBI chrNW_004936479:13,024,831...13,051,908
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Ret |
ret proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma of soft tissue |
ClinVar |
PMID:24336963 PMID:24429398 PMID:24755471 PMID:25256751 PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:29263839 PMID:29642553 PMID:30583724 PMID:30680046 PMID:31428572 PMID:31658439 PMID:32099073 PMID:32179705 More...
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NCBI chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602
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G |
Nr4a3 |
nuclear receptor subfamily 4 group A member 3 |
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ISO |
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OMIM |
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NCBI chrNW_004936524:8,252,321...8,290,747
Ensembl chrNW_004936524:8,252,381...8,289,157
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G |
Taf15 |
TATA-box binding protein associated factor 15 |
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ISO |
ClinVar Annotator: match by term: TAF15-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936490:199,226...230,190
Ensembl chrNW_004936490:199,201...230,244
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G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Familial atrial myxoma |
OMIM ClinVar |
PMID:1263542 PMID:10973256 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709
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G |
Cdc73 |
cell division cycle 73 |
|
ISO |
ClinVar Annotator: match by term: Cystic parathyroid adenoma |
ClinVar |
PMID:12434154 |
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NCBI chrNW_004936638:1,365,457...1,482,497
Ensembl chrNW_004936638:1,365,648...1,483,277
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G |
Glmn |
glomulin, FKBP associated protein |
|
ISO |
ClinVar Annotator: match by term: Familial glomangioma |
ClinVar |
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30460983 More...
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NCBI chrNW_004936537:6,778,317...6,827,384
Ensembl chrNW_004936537:6,777,965...6,829,881
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary retinoblastoma |
ClinVar |
PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 PMID:9671401 PMID:10486322 PMID:10617920 PMID:10671068 PMID:11668642 PMID:12541220 PMID:15884040 PMID:16269091 PMID:17096365 PMID:17576681 PMID:18449911 PMID:18677112 PMID:22084214 PMID:25741868 PMID:25754945 PMID:28492532 More...
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NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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G |
Fosl1 |
FOS like 1, AP-1 transcription factor subunit |
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ISO |
mRNA, protein:increased expression:breast |
RGD |
PMID:17254320 |
RGD:2293756 |
NCBI chrNW_004936599:3,642,504...3,649,294
Ensembl chrNW_004936599:3,642,504...3,648,417
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25038752 PMID:26437033 |
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NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195
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G |
Rara |
retinoic acid receptor alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437033 |
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NCBI chrNW_004936490:15,376,217...15,420,638
Ensembl chrNW_004936490:15,376,205...15,421,611
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G |
Wnt2 |
Wnt family member 2 |
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ISO |
mRNA:increased expression:breast |
RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chrNW_004936589:1,825,209...1,866,898
Ensembl chrNW_004936589:1,825,209...1,866,889
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G |
Wnt4 |
Wnt family member 4 |
|
ISO |
breast fibroadenoma; mRNA:increased expression:tumor:increased vs normal and malignant breast tissue (p=0.001) |
RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chrNW_004936474:7,623,462...7,635,416
Ensembl chrNW_004936474:7,623,463...7,635,664
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G |
Antxr2 |
ANTXR cell adhesion molecule 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12973667 PMID:14508707 |
RGD:1599125 |
NCBI chrNW_004936749:1,936,307...2,014,452
Ensembl chrNW_004936749:1,936,449...2,015,200
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G |
Brf1 |
BRF1 general transcription factor IIIB subunit |
|
ISO |
|
RGD |
PMID:18456653 |
RGD:9586716 |
NCBI chrNW_004936621:265,834...329,255
Ensembl chrNW_004936621:265,829...328,040
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G |
Grm1 |
glutamate metabotropic receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24658000 |
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NCBI chrNW_004936625:91,229...468,242
Ensembl chrNW_004936625:90,299...466,395
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G |
Cdc42 |
cell division cycle 42 |
|
ISO |
|
RGD |
PMID:17971488 |
RGD:5688275 |
NCBI chrNW_004936474:7,556,765...7,598,687
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G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
ameliorates |
ISO |
DNA:deletion:exons: |
RGD |
PMID:24293323 |
RGD:150429711 |
NCBI chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139
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G |
Egr1 |
early growth response 1 |
|
ISO |
human tumor line expressing mouse gene in mouse model |
RGD |
PMID:7585551 |
RGD:5131944 |
NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
susceptibility |
ISO |
|
RGD |
PMID:11238917 |
RGD:11567233 |
NCBI chrNW_004936728:706,499...843,447
Ensembl chrNW_004936728:761,804...844,690
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G |
Nf1 |
neurofibromin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20601955 |
|
NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261
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G |
Serpine1 |
serpin family E member 1 |
severity |
ISO |
|
RGD |
PMID:11059781 |
RGD:8547752 |
NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123
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G |
Tert |
telomerase reverse transcriptase |
treatment |
ISO |
|
RGD |
PMID:19903903 |
RGD:11038656 |
NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
human gene in mouse model |
RGD |
PMID:10753499 |
RGD:5131435 |
NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921
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G |
Mfhas1 |
multifunctional ROCO family signaling regulator 1 |
|
ISO |
|
RGD |
PMID:9973190 |
RGD:1599928 |
NCBI chrNW_004936573:1,567,798...1,662,442
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G |
Mmp21 |
matrix metallopeptidase 21 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16984259 |
|
NCBI chrNW_004936486:13,781,441...13,789,018
Ensembl chrNW_004936486:13,781,616...13,788,955
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma |
ClinVar |
PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 PMID:33060403 PMID:34075200 More...
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NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402
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G |
Aasdh |
aminoadipate-semialdehyde dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532 |
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NCBI chrNW_004936482:18,558,789...18,591,709
Ensembl chrNW_004936482:18,558,943...18,590,297
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G |
Abcb10 |
ATP binding cassette subfamily B member 10 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936484:20,154,467...20,179,748
Ensembl chrNW_004936484:20,155,595...20,180,183
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G |
Abl2 |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936481:9,823,790...9,847,291
Ensembl chrNW_004936481:9,824,392...9,847,104
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G |
Acbd3 |
acyl-CoA binding domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936526:2,917,792...2,955,072
Ensembl chrNW_004936526:2,919,667...2,955,010
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G |
Acbd6 |
acyl-CoA binding domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936481:8,747,203...8,897,617
Ensembl chrNW_004936481:8,746,863...8,898,657
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G |
Ackr1 |
atypical chemokine receptor 1 (Duffy blood group) |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936740:1,295,299...1,298,441
Ensembl chrNW_004936740:1,295,319...1,296,812
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G |
Acp6 |
acid phosphatase 6, lysophosphatidic |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936867:171,808...189,266
Ensembl chrNW_004936867:171,799...187,432
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G |
Acta1 |
actin alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936484:20,236,320...20,239,385
Ensembl chrNW_004936484:20,236,320...20,239,430
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G |
Actn2 |
actinin alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936484:16,186,844...16,248,394
Ensembl chrNW_004936484:16,186,642...16,248,400
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G |
Adam15 |
ADAM metallopeptidase domain 15 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936580:4,588,182...4,598,659
Ensembl chrNW_004936580:4,588,039...4,599,014
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G |
Adamts4 |
ADAM metallopeptidase with thrombospondin type 1 motif 4 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936903:490,718...500,443
Ensembl chrNW_004936903:491,139...500,443
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G |
Adamtsl4 |
ADAMTS like 4 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936580:782,146...791,388
Ensembl chrNW_004936580:782,112...791,605
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G |
Adar |
adenosine deaminase RNA specific |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435
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G |
Adcy10 |
adenylate cyclase 10 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936481:18,274,158...18,330,136
Ensembl chrNW_004936481:18,274,154...18,330,173
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G |
Adipor1 |
adiponectin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936567:1,658,405...1,674,794
Ensembl chrNW_004936567:1,658,383...1,676,199
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G |
Adora1 |
adenosine A1 receptor |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936567:1,430,128...1,508,626
Ensembl chrNW_004936567:1,429,817...1,462,532
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G |
Adss2 |
adenylosuccinate synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936526:6,342,233...6,380,736
Ensembl chrNW_004936526:6,342,221...6,380,840
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G |
Agt |
angiotensinogen |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
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|
G |
Ahctf1 |
AT-hook containing transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936526:4,143,002...4,209,689
Ensembl chrNW_004936526:4,142,566...4,209,791
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G |
Aim2 |
absent in melanoma 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936740:1,447,869...1,460,836
Ensembl chrNW_004936740:1,451,001...1,460,836
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G |
Akt3 |
AKT serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936526:6,944,056...7,201,226
Ensembl chrNW_004936526:6,944,005...7,200,583
|
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G |
Aldh9a1 |
aldehyde dehydrogenase 9 family member A1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936481:19,630,045...19,650,009
|
|
G |
Angel2 |
angel homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936557:605,609...621,421
Ensembl chrNW_004936557:605,569...623,291
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|
G |
Angptl1 |
angiopoietin like 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936481:10,048,439...10,071,035
Ensembl chrNW_004936481:10,048,475...10,071,134
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G |
Ankrd34a |
ankyrin repeat domain 34A |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936867:693,797...696,820
Ensembl chrNW_004936867:693,800...696,826
|
|
G |
Ankrd35 |
ankyrin repeat domain 35 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936867:616,653...633,499
Ensembl chrNW_004936867:616,650...633,524
|
|
G |
Ankrd45 |
ankyrin repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936481:14,130,319...14,161,114
Ensembl chrNW_004936481:14,136,920...14,164,198
|
|
G |
Anp32e |
acidic nuclear phosphoprotein 32 family member E |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936580:519,135...526,079
|
|
G |
Anxa9 |
annexin A9 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936580:1,208,536...1,218,438
Ensembl chrNW_004936580:1,208,120...1,220,173
|
|
G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine |
ClinVar |
PMID:25741868 PMID:26530882 PMID:28492532 |
|
NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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G |
Apcs |
amyloid P component, serum |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936740:979,007...987,312
Ensembl chrNW_004936740:986,460...987,361
|
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G |
Aph1a |
aph-1 homolog A, gamma-secretase subunit |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936580:552,362...556,027
Ensembl chrNW_004936580:552,362...556,027
|
|
G |
Apoa2 |
apolipoprotein A2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936903:520,420...521,726
Ensembl chrNW_004936903:520,650...521,910
|
|
G |
Apobec4 |
apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936481:6,251,559...6,256,883
|
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G |
Aqp10 |
aquaporin 10 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936580:3,981,254...3,984,895
Ensembl chrNW_004936580:3,980,659...3,984,394
|
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G |
Arf1 |
ARF GTPase 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936864:117,510...119,612
|
|
G |
Arhgap30 |
Rho GTPase activating protein 30 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936903:361,076...379,595
|
|
G |
Arhgef11 |
Rho guanine nucleotide exchange factor 11 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936580:6,066,577...6,177,595
Ensembl chrNW_004936580:6,067,429...6,177,601
|
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G |
Arhgef2 |
Rho/Rac guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936580:5,213,323...5,230,861
Ensembl chrNW_004936580:5,214,401...5,245,021
|
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G |
Arid4b |
AT-rich interaction domain 4B |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936484:17,116,304...17,257,640
Ensembl chrNW_004936484:17,116,229...17,258,277
|
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G |
Arl8a |
ARF like GTPase 8A |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936567:2,395,098...2,404,974
Ensembl chrNW_004936567:2,395,111...2,404,972
|
|
G |
Arl9 |
ARF like GTPase 9 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532 |
|
NCBI chrNW_004936482:18,722,725...18,738,478
Ensembl chrNW_004936482:18,726,574...18,739,081
|
|
G |
Arnt |
aryl hydrocarbon receptor nuclear translocator |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936580:1,038,420...1,093,319
Ensembl chrNW_004936580:1,036,973...1,082,984
|
|
G |
Arpc5 |
actin related protein 2/3 complex subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936481:6,267,133...6,276,173
Ensembl chrNW_004936481:6,267,091...6,278,170
|
|
G |
Arv1 |
ARV1 homolog, fatty acid homeostasis modulator |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936484:19,551,293...19,562,132
Ensembl chrNW_004936484:19,551,293...19,562,138
|
|
G |
Ascl5 |
achaete-scute family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936567:3,267,224...3,267,841
Ensembl chrNW_004936567:3,267,224...3,267,829
|
|
G |
Ash1l |
ASH1 like histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936580:4,821,384...4,997,112
Ensembl chrNW_004936580:4,820,142...4,997,112
|
|
G |
Aspm |
assembly factor for spindle microtubules |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752
|
|
G |
Astn1 |
astrotactin 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936481:11,461,091...11,743,376
Ensembl chrNW_004936481:11,461,009...11,743,386
|
|
G |
Atf3 |
activating transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936557:909,302...922,619
Ensembl chrNW_004936557:908,318...922,624
|
|
G |
Atf6 |
activating transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004937131:170,649...183,942
|
|
G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936740:489,357...514,235
Ensembl chrNW_004936740:488,154...514,308
|
|
G |
Atp1b1 |
ATPase Na+/K+ transporting subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936481:17,438,146...17,460,329
Ensembl chrNW_004936481:17,436,270...17,460,348
|
|
G |
Atp2b4 |
ATPase plasma membrane Ca2+ transporting 4 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936567:944,825...1,039,920
Ensembl chrNW_004936567:950,797...993,245
|
|
G |
Atp6v1g3 |
ATPase H+ transporting V1 subunit G3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936567:5,461,760...5,476,893
Ensembl chrNW_004936567:5,461,760...5,476,879
|
|
G |
Atp8b2 |
ATPase phospholipid transporting 8B2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936580:3,988,383...4,010,156
Ensembl chrNW_004936580:3,988,463...4,010,584
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G |
Avpr1b |
arginine vasopressin receptor 1B |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936557:6,415,544...6,423,863
Ensembl chrNW_004936557:6,415,547...6,424,711
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G |
Axdnd1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936481:9,531,655...9,609,564
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G |
B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936484:17,012,403...17,049,519
Ensembl chrNW_004936484:17,012,537...17,049,511
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G |
B3galt2 |
beta-1,3-galactosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936638:1,424,641...1,434,266
Ensembl chrNW_004936638:1,426,044...1,433,660
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G |
B4galt3 |
beta-1,4-galactosyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936903:474,789...481,342
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G |
B9d1 |
B9 domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
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NCBI chrNW_004936881:396,930...411,059
Ensembl chrNW_004936881:396,930...411,031
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G |
Bag6 |
BAG cochaperone 6 |
disease_progression |
ISO |
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RGD |
PMID:28197361 |
RGD:14390153 |
NCBI chrNW_004936727:1,866,235...1,885,266
Ensembl chrNW_004936727:1,873,413...1,885,366
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G |
Batf3 |
basic leucine zipper ATF-like transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936557:837,023...850,316
Ensembl chrNW_004936557:837,001...850,320
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G |
Bcan |
brevican |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936580:5,816,196...5,828,531
Ensembl chrNW_004936580:5,816,359...5,828,126
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G |
Bcl9 |
BCL9 transcription coactivator |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936867:136,798...158,936
Ensembl chrNW_004936867:139,418...158,763
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G |
Bglap |
bone gamma-carboxyglutamate protein |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155
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G |
Blzf1 |
basic leucine zipper nuclear factor 1 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936481:17,261,399...17,280,642
Ensembl chrNW_004936481:17,260,472...17,281,309
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G |
Bnipl |
BCL2 interacting protein like |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936580:1,254,525...1,264,380
Ensembl chrNW_004936580:1,254,822...1,265,031
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G |
Boc |
BOC cell adhesion associated, oncogene regulated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
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NCBI chrNW_004936536:813,984...890,766
Ensembl chrNW_004936536:813,949...891,065
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G |
Bola1 |
bolA family member 1 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936606:878,864...932,104
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G |
Bpnt1 |
3'(2'), 5'-bisphosphate nucleotidase 1 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936650:2,113,933...2,138,487
Ensembl chrNW_004936650:2,113,649...2,138,934
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31277584 PMID:31779674 PMID:31891627 PMID:34476331 More...
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NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
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G |
Brinp2 |
BMP/retinoic acid inducible neural specific 2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936481:11,358,832...11,455,104
Ensembl chrNW_004936481:11,356,608...11,455,125
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G |
Brinp3 |
BMP/retinoic acid inducible neural specific 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936481:711,356...1,067,856
Ensembl chrNW_004936481:713,539...1,068,237
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G |
Brox |
BRO1 domain and CAAX motif containing |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936526:6,185...30,108
Ensembl chrNW_004936526:6,496...30,743
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G |
Btg2 |
BTG anti-proliferation factor 2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936567:1,310,525...1,314,469
Ensembl chrNW_004936567:1,309,658...1,314,515
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G |
Btnl10 |
Butyrophilin-like protein 10 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004937135:93,043...99,106
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G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
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NCBI chrNW_004936498:3,099,419...3,242,334
Ensembl chrNW_004936498:3,099,396...3,242,335
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G |
C4bpb |
complement component 4 binding protein beta |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936557:5,546,692...5,561,531
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G |
Ca14 |
carbonic anhydrase 14 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936580:545,221...552,071
Ensembl chrNW_004936580:544,852...555,089
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G |
Cacna1e |
calcium voltage-gated channel subunit alpha1 E |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936481:7,694,960...7,908,683
Ensembl chrNW_004936481:7,702,152...7,993,263
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G |
Cacna1s |
calcium voltage-gated channel subunit alpha1 S |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936567:3,269,283...3,331,858
Ensembl chrNW_004936567:3,269,355...3,331,460
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G |
Cacybp |
calcyclin binding protein |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936481:13,198,744...13,203,518
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G |
Cadm3 |
cell adhesion molecule 3 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936740:1,298,512...1,331,376
Ensembl chrNW_004936740:1,299,043...1,331,453
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G |
Camk1g |
calcium/calmodulin dependent protein kinase IG |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936557:3,488,883...3,515,819
Ensembl chrNW_004936557:3,489,445...3,515,916
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G |
Camsap2 |
calmodulin regulated spectrin associated protein family member 2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936567:3,497,304...3,590,967
Ensembl chrNW_004936567:3,497,046...3,590,392
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G |
Capn2 |
calpain 2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936526:879,765...932,682
Ensembl chrNW_004936526:879,765...932,682
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G |
Capn8 |
calpain 8 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936526:763,085...841,060
Ensembl chrNW_004936526:763,291...841,042
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G |
Capn9 |
calpain 9 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936484:19,671,799...19,699,161
Ensembl chrNW_004936484:19,671,964...19,699,161
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G |
Casq1 |
calsequestrin 1 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936740:430,367...442,468
Ensembl chrNW_004936740:430,026...442,539
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G |
Catspere |
catsper channel auxiliary subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936526:6,188,189...6,340,523
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
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NCBI chrNW_004936477:12,315,829...12,415,915
Ensembl chrNW_004936477:12,315,799...12,408,603
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G |
Ccdc181 |
coiled-coil domain containing 181 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936481:17,235,194...17,250,718
Ensembl chrNW_004936481:17,237,558...17,250,718
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G |
Ccdc185 |
coiled-coil domain containing 185 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936526:634,895...637,032
Ensembl chrNW_004936526:635,109...636,965
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G |
Ccdc190 |
coiled-coil domain containing 190 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936869:733,427...739,506
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G |
Ccsap |
centriole, cilia and spindle associated protein |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936484:20,271,834...20,277,945
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G |
Cct3 |
chaperonin containing TCP1 subunit 3 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936580:5,537,338...5,554,384
Ensembl chrNW_004936580:5,537,015...5,554,384
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G |
Cd160 |
CD160 molecule |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936867:478,625...485,905
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G |
Cd1c |
CD1c molecule |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936740:2,068,558...2,071,531
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G |
Cd1e |
CD1e molecule |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936740:1,990,876...1,993,639
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G |
Cd244 |
CD244 molecule |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936903:146,108...162,410
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G |
Cd247 |
CD247 molecule |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936481:18,544,129...18,605,239
Ensembl chrNW_004936481:18,597,335...18,604,097
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G |
Cd34 |
CD34 molecule |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936557:5,030,788...5,051,864
Ensembl chrNW_004936557:5,030,441...5,051,868
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G |
Cd3e |
CD3e molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
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NCBI chrNW_004936542:3,379,361...3,390,677
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G |
Cd46 |
CD46 molecule |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936557:5,136,784...5,175,543
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G |
Cd48 |
CD48 molecule |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936740:7,662...24,010
Ensembl chrNW_004936740:7,633...24,236
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G |
Cd55 |
CD55 molecule (Cromer blood group) |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936557:5,344,373...5,364,234
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G |
Cd84 |
CD84 molecule |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936740:111,296...133,847
Ensembl chrNW_004936740:123,885...134,097
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G |
Cdc42bpa |
CDC42 binding protein kinase alpha |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936526:3,686,403...3,996,035
Ensembl chrNW_004936526:3,690,422...3,995,095
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